L163I (p.Leu163Ile) variant of TLR9 (Toll-like receptor 9)
L163I (p.Leu163Ile) in TLR9 (Toll-like receptor 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
L163I (p.Leu163Ile) variant details
- p.Leu163Ile
- rs201201841
- ClinGen CA2430813
- ClinVar RCV004231597
- ExAC rs201201841
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0863
- REVEL 0.08
- CADD 4.38
- PolyPhen-2 0.12
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available